Raras
Buscar doenças, sintomas, genes...
Linfangioleiomiomatose
ORPHA:538CID-10 · D48.7CID-11 · CB07DOENÇA RARA

Linfangiomiomatose envolvendo os pulmões e os gânglios linfáticos locais. Os pacientes geralmente apresentam derrame pleural quiloso. O curso clínico é variável. Pacientes com lesões ressecáveis ​​geralmente apresentam evolução clínica favorável. Pacientes com lesões difusas geralmente apresentam evolução clínica progressiva.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Linfangiomiomatose envolvendo os pulmões e os gânglios linfáticos locais. Os pacientes geralmente apresentam derrame pleural quiloso. O curso clínico é variável. Pacientes com lesões ressecáveis ​​geralmente apresentam evolução clínica favorável. Pacientes com lesões difusas geralmente apresentam evolução clínica progressiva.

Pesquisas ativas
13 ensaios
51 total registrados no ClinicalTrials.gov
Publicações científicas
2.052 artigos
Último publicado: 2026 Apr 8

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.15
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D48.7
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫁
Pulmão
6 sintomas
🫘
Rins
5 sintomas
🩸
Sangue
3 sintomas
🧠
Neurológico
3 sintomas
👁️
Olhos
2 sintomas
🫃
Digestivo
2 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

90%prev.
Defeito ventilatório restritivo
Muito frequente (99-80%)
90%prev.
Anormalidade do sistema linfático
Muito frequente (99-80%)
90%prev.
Infiltrados pulmonares
Muito frequente (99-80%)
90%prev.
Tosse
Muito frequente (99-80%)
90%prev.
Dispneia
Muito frequente (99-80%)
90%prev.
Dor torácica
Muito frequente (99-80%)
36sintomas
Muito frequente (6)
Frequente (11)
Ocasional (19)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.

Defeito ventilatório restritivoRestrictive ventilatory defect
Muito frequente (99-80%)90%
Anormalidade do sistema linfáticoAbnormality of the lymphatic system
Muito frequente (99-80%)90%
Infiltrados pulmonaresPulmonary infiltrates
Muito frequente (99-80%)90%
TosseCough
Muito frequente (99-80%)90%
DispneiaDyspnea
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.052PubMed
Últimos 10 anos200publicações
Pico202585 papers
Linha do tempo
2026Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

TSC1HamartinDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12906785, PubMed:15340059, PubMed:24529379, PubMed:28215400). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a

LOCALIZAÇÃO

Lysosome membraneCytoplasm, cytosol

VIAS BIOLÓGICAS (5)
MacroautophagyEnergy dependent regulation of mTOR by LKB1-AMPKTP53 Regulates Metabolic GenesInhibition of TSC complex formation by PKBTBC/RABGAPs
MECANISMO DE DOENÇA

Tuberous sclerosis 1

An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
59.5 TPM
Cérebro - Hemisfério cerebelar
57.4 TPM
Nervo tibial
37.5 TPM
Ovário
36.5 TPM
Tireoide
35.7 TPM
OUTRAS DOENÇAS (7)
tuberous sclerosis 1isolated focal cortical dysplasia type IIlymphangioleiomyomatosistuberous sclerosis
HGNC:12362UniProt:Q92574
TSC2TuberinDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:33436626, PubMed:35772404). Within the TSC-TBC complex

LOCALIZAÇÃO

Lysosome membraneCytoplasm, cytosol

VIAS BIOLÓGICAS (6)
Energy dependent regulation of mTOR by LKB1-AMPKTP53 Regulates Metabolic GenesInhibition of TSC complex formation by PKBTBC/RABGAPsAKT phosphorylates targets in the cytosol
MECANISMO DE DOENÇA

Tuberous sclerosis 2

An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
133.2 TPM
Cérebro - Hemisfério cerebelar
103.9 TPM
Pituitária
94.3 TPM
Tireoide
88.0 TPM
Testículo
86.3 TPM
OUTRAS DOENÇAS (9)
lymphangioleiomyomatosistuberous sclerosis 2isolated focal cortical dysplasia type IItuberous sclerosis
HGNC:12363UniProt:P49815

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 sirolimus (SIROLIMUS)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

3,948 variantes patogênicas registradas no ClinVar.

🧬 TSC2: NM_000548.5(TSC2):c.4673A>G (p.Glu1558Gly) ()
🧬 TSC2: NM_000548.5(TSC2):c.1241G>A (p.Cys414Tyr) ()
🧬 TSC2: NM_000548.5(TSC2):c.2T>G (p.Met1Arg) ()
🧬 TSC2: NM_000548.5(TSC2):c.734_735del (p.Arg245fs) ()
🧬 TSC2: NM_000548.5(TSC2):c.1234G>T (p.Glu412Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 7 variantes classificadas pelo ClinVar.

2
5
Patogênica (28.6%)
Benigna (71.4%)
VARIANTES MAIS SIGNIFICATIVAS
TSC2: NM_000548.5(TSC2):c.4849+12C>T [Conflicting classifications of pathogenicity]
TSC2: NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) [Conflicting classifications of pathogenicity]
TSC1: NM_000368.5(TSC1):c.1002G>A (p.Ser334=) [Benign/Likely benign]
TSC2: NM_000548.5(TSC2):c.3815-15G>A [Benign/Likely benign]
TSC2: NM_000548.5(TSC2):c.2031C>T (p.Pro677=) [Benign/Likely benign]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
2Fase 26
1Fase 12
·Pré-clínico10
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Linfangioleiomiomatose

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

10 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

51 ensaios clínicos encontrados, 13 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Divulgue para pacientes e familiares que acompanham esta doença.
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Publicações mais relevantes

🥇Melhor nível de evidência: Meta-análise
Timeline de publicações
962 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 962

#1

Tuberous sclerosis complex.

Nature reviews. Disease primers2026 Mar 12

Tuberous sclerosis complex (TSC) is a rare genetic disease caused by heterozygous loss-of-function variants in TSC1 or TSC2. Patients present with benign tumours known as hamartomas in the brain, eyes, lungs, kidneys, heart and skin. Many hamartomas contain mosaic second hit variants in TSC1 or TSC2. The most disabling features of TSC include epilepsy and TSC-associated neuropsychiatric disorders (TAND) such as intellectual disability and autism spectrum disorder. Remarkable progress has been made both in understanding the pathogenesis of TSC and in its clinical management, largely due to the discovery of the link between TSC1 and TSC2 and the mechanistic target of rapamycin (mTOR) signalling pathway. TSC1 and TSC2 form a protein complex that inhibits mTOR. Naturally occurring inhibitors of mTOR (rapamycin) and its analogues, collectively known as rapalogues, have been used to test various hypotheses in preclinical models and are approved for the treatment of several manifestations of TSC. Approved drug treatments (rapalogues) exist for subependymal giant cell astrocytomas, renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas and refractory seizures. However, there is still an unmet need for effective treatment of TAND and refractory epilepsy, despite the available medical and surgical options.

#2

Choriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.

BMJ case reports2026 Feb 25

Choriocarcinoma is a highly aggressive malignant germ cell tumour containing syncytiotrophoblasts that secrete beta-human chorionic gonadotropin, and it has a poor prognosis, with a dismal 5-year survival rate of <5%. It generally affects young individuals. Cystic lesions in the lung are uncommon in malignancies that can predispose patients to spontaneous pneumothorax. Multiple cystic lesions are less commonly seen in metastatic disease. Diffuse cystic lung diseases (DCLD) are a group of diseases characterised by cysts in the bilateral lung fields that are not necessarily evenly distributed. The differential diagnosis is limited and typically includes lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis. Sometimes, metastatic malignancy can present as DCLD. Metastatic leiomyoma, endometrial stromal sarcoma and cellular fibrous histiocytic tumours have been reported as causes of lung cysts. We report a case of choriocarcinoma with cystic lung metastasis in a woman in her 30s.

#3

Dual renal pathologies in tuberous sclerosis complex: bilateral renal angiomyolipomas and concurrent left renal cell carcinoma.

BMJ case reports2026 Jan 28

A female patient in the 70s presented with bilateral flank pain and haematuria. Evaluation confirmed tuberous sclerosis complex (TSC) with cutaneous findings, a giant renal angiomyolipoma (AML) in the patient's left kidney with a bleeding pseudoaneurysm, and a large mass in the right kidney containing distinct AML and high-grade renal cell carcinoma tumours. Situs inversus totalis was noted. Transarterial embolisation controlled the haemorrhage from the left kidney, followed by open partial nephrectomy on the right kidney to address the malignancy while preserving renal function. Everolimus was initiated post discharge to manage residual AMLs and lymphangioleiomyomatosis. Histopathology confirmed dual pathology in the right kidney. The patient recovered well, with stable renal function and resolved haematuria at 6 months. This case underscores the need for comprehensive imaging, histopathological confirmation and nephron-sparing strategies in managing complex renal pathologies in TSC, particularly with anatomical anomalies such as situs inversus.

#4

Human blood cell traits and sporadic lymphangioleiomyomatosis: results from mediation joint multi-omics and eQTL Mendelian randomization analysis.

Orphanet journal of rare diseases2026 Jan 27

To investigate the genetic causality between Human blood cell (HBC) traits and sporadic lymphangioleiomyomatosis (sLAM) by mediation joint multi-omics and eQTL Mendelian randomization analysis. Quality control processes were followed to select eligible instrumental variables strongly associated with 35 kinds of HBC traits. Independent cohort of European ancestry with sLAM and lung function genome-wide association study (GWAS) summary statistics were used separately. We utilized a two-step MR approach to explore potential mediators and evaluate the proportion of effect mediated in the associations linking HBC trait candidates to sLAM. Finally MR analysis integrating single cell expression quantitative trait loci (sc-eQTL) from 14 immune cell types with GWAS of sLAM was conducted. Increased level of basophil count was positively associated with higher risk of sLAM (BASO#; OR = 3.878, 95%CI:1.137–13.221, P = 0.030). No evidences of horizontal pleiotropy were observed. The multivariable MR still demonstrated that BASO# was genetically associated with the risk of sLAM after adjustment for other blood traits in the same category(OR = 5.918, 95% CI:1.275–27.468 P = 0.023) and estradiol (OR = 3.814, 95% CI:1.130-12.874, P = 0.031) respectively. No evidence for associations between basophil traits (BASO# and basophil percentage of white cells: BASO%) and lung functions containing forced vital capacity (FVC) and forced expiratory volume in 1 s/forced vital capacity(FEV1/FVC). The estimated degree of transitional B cell absolute count mediated the effect of BASO# on sLAM by 36%, while no mediating factors, including immune cells, inflammatory proteins, VEGF-related proteins were found. We identified 12 genes in 14 immune cell types that may have a putative causal relationship with sLAM by mediating through the regulation of BASO#, such as EGFL8, PAX8, KANSL1-AS and L3MBTL3. L3MBTL3 was implicated across several immune cell types. For the first time, this study leverages mediation analysis and multi-omics MR integrated with sc-eQTL data to elucidate the roles of HBC traits, immune cells, inflammatory proteins, VEGF-related proteins and immune cell-specific genes in the pathogenesis of sLAM among the European populations. The online version contains supplementary material available at 10.1186/s13023-026-04224-6.

#5

CCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis.

Orphanet journal of rare diseases2026 Jan 20

Lymphangioleiomyomatosis (LAM) is a rare, multisystemic metastatic disease. Chemokines are implicated in promoting LAM cell migration and tumor progression. Our prior plasma proteomics identified elevated C-C motif chemokine ligand 14 (CCL14) in LAM, yet its role remains unexplored. Proteomic analysis identified CCL14 as differentially expressed in LAM patients versus healthy controls. Single-cell RNA sequencing (scRNA-seq) of lung tissues (six LAM patients, five healthy donors) identified the cellular source of CCL14 and explored its functional pathways bioinformatically. ELISA-quantified plasma CCL14 levels were analyzed for correlations with clinical phenotypes and longitudinal disease progression in 53 LAM patients and 25 controls. Proteomics and scRNA-seq revealed upregulation of CCL14 in LAM patients, primarily localized to lymphatic and vascular endothelial cells. Functional enrichment linked CCL14 to proliferative (mTORC1, MYC), inflammatory (TNF-α/NF-κB), and chemotactic pathways. CellPhoneDB indicated CCL14 mediates interactions between endothelial cells and innate immune/alveolar epithelial cells, and between endothelial cells themselves, via ACKR2, CCR3 and CCR1. Clinically, plasma CCL14 levels were significantly elevated in LAM patients versus controls (p = 0.003). Subgroup analyses demonstrated higher CCL14 levels in patients with angiomyolipomas (AMLs) versus those without, and in CT grade III versus grade I/II. Critically, CCL14 predicted disease progression: baseline CCL14 levels were higher in progressive versus stable patients (p = 0.0266) and positively correlated with annual increase in the percentage of cystic lung volume (r = 0.4051, p = 0.0446). CCL14 is a critical regulatory molecule within the LAM microenvironment and a promising biomarker for disease severity and progression.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.401 artigos no totalmostrando 198

2026

LAMCAK pilot study: urinary cathepsin K as a potential biomarker in lymphangioleiomyomatosis.

ERJ open research
2026

Tuberous sclerosis complex.

Nature reviews. Disease primers
2026

A case description: lymphangioleiomyomatosis mimicking ovarian cyst.

Quantitative imaging in medicine and surgery
2026

A Case Series of Lymphangioleiomyomatosis, a Rare Cystic Lung Disease.

Respirology case reports
2026

High Prevalence of TSC2 Mutations in Lung Tissue Samples from Patients with Sporadic Lymphangioleiomyomatosis (LAM).

The European respiratory journal
2026

Three cases of whole breast irradiation for breast cancer in patients with Lymphangioleiomyomatosis (LAM).

Breast cancer (Tokyo, Japan)
2026

Uterine PEComa With Lymphangioleiomyomatosis (LAM)-Like Features: A Case Report.

Case reports in pathology
2026

Diagnostic Value of Serum VEGF-D in Lymphangioleiomyomatosis: Results of the First Prospective Study in the Russian Federation.

Diagnostics (Basel, Switzerland)
2026

Cystic lung diseases in the daily routine: a comprehensive step-wise algorithm for the radiological diagnosis of cystic lung lesions and diffuse cystic lung diseases.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2026

Visualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace.

Intractable &amp; rare diseases research
2026

Choriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.

BMJ case reports
2026

Educational attainment of individuals with lymphangioleiomyomatosis is a determinant of timely diagnosis and treatment uptake.

Orphanet journal of rare diseases
2026

Determinants of adherence to sirolimus among lymphangioleiomyomatosis patients.

BMC pulmonary medicine
2026

Tuberous sclerosis complex with multisystem involvement: A case report.

The Journal of international medical research
2026

Dual renal pathologies in tuberous sclerosis complex: bilateral renal angiomyolipomas and concurrent left renal cell carcinoma.

BMJ case reports
2026

Human blood cell traits and sporadic lymphangioleiomyomatosis: results from mediation joint multi-omics and eQTL Mendelian randomization analysis.

Orphanet journal of rare diseases
2026

CCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis.

Orphanet journal of rare diseases
2026

Renal Angiomyolipoma in a Young Woman With Tuberous Sclerosis: A Case Report.

Clinical case reports
2026

Selective embolization of a renal angiomyolipoma using n-butyl-2-cyanoacrylate‒lipiodol‒iopamidol mixture under microballoon occlusion resulting in tumor reduction and preservation of normal renal blood flow: A case report.

Radiology case reports
2026

Radiologic Approach to Cystic Lung Diseases: From Cyst Definition to Diagnosis.

Seminars in roentgenology
2026

Recent advances in understanding the pathogenesis, diagnosis, and treatment of tuberous sclerosis complex (TSC)-associated Lymphangioleiomyomatosis.

Biochemical pharmacology
2026

Six-minute walk distance predicting the risk of mortality in lymphangioleiomyomatosis patients.

Orphanet journal of rare diseases
2026

A successful pregnancy in advanced lymphangioleiomyomatosis: A case report and review of pregnancy management in LAM.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2026

[Analysis of the protective effects of low-dose sirolimus on lung function in patients with lymphangioleiomyomatosis].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2025

High-Throughput Proteomics in Lymphangioleiomyomatosis: Premelanosome Protein as a Diagnostic Biomarker, Construction of a Diagnosis Score, and Evidence of Neutrophil Involvement.

Chest
2025

Recurrent Pneumothorax Revealing Lymphangioleiomyomatosis in a Young Woman: A Case Report.

Clinical case reports
2025

Extracellular Matrix Deposition Drives Disease Progression and Reduces Rapamycin Response in LAM.

The European respiratory journal
2025

[Clinicopathological and molecular genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH)].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2025

Rare co-existence of 15q26 deletion syndrome and lymphangioleiomyomatosis: diagnostic and therapeutic challenge.

Journal of applied genetics
2025

Curious Coexistence of Perivascula Epitheloid Cell Tumour (PEComa) Systemic Sclerosis-Associated Interstitial Lung Disease and Biopsy-Proven Lymphangioleiomyomatosis in a Middle-Aged Female: A Case Report.

Cureus
2025

Spontaneous Pneumothorax: A Review of Underlying Etiologies and Diagnostic Imaging Modalities.

Tomography (Ann Arbor, Mich.)
2025

Extracellular vesicles modulate integrin signaling and subcellular energetics to promote pulmonary lymphangioleiomyomatosis metastasis.

Communications biology
2025

[A case of diffuse cystic lung disease with severe pulmonary hypertension in a reproductive-aged female].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2025

Robot-assisted laparoscopic resection of giant left renal angiomyolipoma and multiple left retroperitoneal angiomyolipomas: a case report of lymphangioleiomyomatosis.

BMC urology
2026

Prevalence and assessment of exercise-induced desaturation in lymphangioleiomyomatosis.

Thorax
2026

PEComas of the colon and rectum: a case report of a 15-year-old girl and a review of the pertinent literature.

Clinical journal of gastroenterology
2025

Nanomedicine for lymphangioleiomyomatosis: toward targeted and durable anti-fibrotic therapy.

Annals of medicine and surgery (2012)
2026

GPNMB immunohistochemistry is a useful ancillary tool for the diagnosis of pulmonary lymphangioleiomyomatosis.

Histopathology
2025

[Retroperitoneal lymph node lymphangioleiomyomatosis: tumor with an ambiguous clinical course].

Arkhiv patologii
2025

Current Perspectives on The Diagnosis and Management of Lymphangioleiomyomatosis.

Clinics in chest medicine
2025

mTOR dysregulation induces IL-6 and paracrine AT2 cell senescence impeding lung repair in lymphangioleiomyomatosis.

Nature communications
2025

Direct modulation of TRPM8 ion channels by rapamycin and analog macrolide immunosuppressants.

eLife
2025

Beyond the uterus: diagnostic puzzle unravelled as benign metastasising leiomyomatosis with retroperitoneal and pulmonary involvement.

BMJ case reports
2025

Emerging Concepts in Pathogenesis, Multiomics Applications, and Clinical Research in Lymphangioleiomyomatosis.

Seminars in respiratory and critical care medicine
2025

Mediastinal lymphangioleiomyomatosis: a case report and literature review.

Frontiers in oncology
2025

An Unusual Case of Primary Sjögren's Syndrome and Lymphangioleiomyomatosis Diagnosed From Refractory Cough.

Cureus
2026

Extrapulmonary lymphangioleiomyomatosis: an incidental finding detected in surgery for gynecological malignancies.

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society
2026

Extracellular Matrix and Fibroblast Activation in Lymphangioleiomyomatosis.

American journal of respiratory cell and molecular biology
2025

Sporadic lymphangioleiomyomatosis in young female patient: A case report and review of the literature.

International journal of surgery case reports
2025

Inflammatory, Functional, and Compositional Changes of the Uterine Immune Microenvironment in a Lymphangioleiomyomatosis Mouse Model.

Journal of cellular immunology
2025

Exploring the uncharted role of cell senescence in rare diseases.

Orphanet journal of rare diseases
2025

LAM-CAM: In Vivo Model for Rapid Analysis of Lymphangioleiomyomatosis Tumor Formation and Inhibition.

American journal of respiratory cell and molecular biology
2025

Successful live birth via in vitro fertilization in a patient with lymphangioleiomyomatosis: a case report.

Journal of medical case reports
2025

Giant renal angiomyolipoma unmasks underlying lymphangioleiomyomatosis: a case report and literature review.

Frontiers in medicine
2025

Mortality in Tuberous sclerosis Complex: Current understandings.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

FGFR4 p.Gly388Arg polymorphism in PBMCs of LAM patients: findings of a pilot study.

Frontiers in medicine
2025

Novel treatment strategies for lymphangioleiomyomatosis: a narrative review.

European respiratory review : an official journal of the European Respiratory Society
2025

Sporadic Lymphangioleiomyomatosis in a 35-Year-Old Female Patient: A Rare Cause of Spontaneous Pneumothorax.

Cureus
2025

Radiological Manifestations of Lymphangioleiomyomatosis: A Local Patient Cohort Analysis.

Cureus
2025

A potential new entity pending further validation of pulmonary primary interstitial Tumor: Lymphangioleiomyomatosis-like.

Respiratory medicine case reports
2025

Small extracellular vesicles and induction of epithelial-to-mesenchymal transition in lymphangioleiomyomatosis.

The European respiratory journal
2025

Exhaled Breath Analysis in Lymphangioleiomyomatosis by Real-Time Proton Mass Spectrometry.

International journal of molecular sciences
2025

Diagnostic Challenges in Lymphangioleiomyomatosis: From Ovarian Mass to Systemic Diagnosis.

Acta medica Lituanica
2025

Modulation of infiltrating CD206+ macrophages restricts progression of pulmonary lymphangioleiomyomatosis.

The European respiratory journal
2025

Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.

Scientific reports
2025

Disease Classification of Pulmonary Xenon Ventilation MRI Using Artificial Intelligence.

Academic radiology
2025

Expanding the radiological spectrum of Lymphangioleiomyomatosis: A case with Unique imaging findings.

Respiratory investigation
2025

Neutrophil and neutrophil-lymphocyte ratios as predictors of clinical characteristics in patients with Lymphangioleiomyomatosis.

Frontiers in medicine
2025

Sirolimus Use During Pregnancy in Women with Lymphangioleiomyomatosis.

Annals of the American Thoracic Society
2025

Rare pulmonary diseases and pulmonary hypertension.

Current opinion in pulmonary medicine
2025

Cystic Lung Phantom to Validate Clinical CT Protocols.

Methods and protocols
2025

Multifocal micronodular pneumocyte hyperplasia and splenic hamartomas in tuberous sclerosis complex: A case report.

Radiology case reports
2025

Spectrum of Renal Angiomyolipoma with Radiologic-Pathologic Correlation.

Radiographics : a review publication of the Radiological Society of North America, Inc
2025

Current concepts in the pathogenesis and clinical management of lymphangioleiomyomatosis.

Current opinion in pulmonary medicine
2025

[Evaluation of 18F-fibroblast activation protein inhibitor-42 PET/CT in lymphangioleiomyomatosis and its correlation with vascular endothelial growth factor-D].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2025

Autocrine Transforming Growth Factor-β Signaling Promotes Cell Motility and Chemokine Secretion in an Angiomyolipoma-Derived Cell Model of Lymphangioleiomyomatosis.

The American journal of pathology
2025

Increased malignancy risk in patients with lymphangioleiomyomatosis: findings from a Chinese cohort.

Orphanet journal of rare diseases
2025

Iron metabolism disorder and artesunate inhibiting tumor growth by inducing ferroptosis in Lymphangioleiomyomatosis.

Respiratory research
2025

Pulmonary lymphangioleiomyomatosis (LAM) having no extra-pulmonary manifestations with chemical and mechanical pleurodesis: A case report and review of literature.

Radiology case reports
2025

Associations of VEGF-D levels with clinical manifestations in lymphangioleiomyomatosis: a cross-sectional analysis of 631 cases.

Orphanet journal of rare diseases
2025

[Radiology of cysts: Analysis and classification of pulmonary and hepato-pancreatic cysts on imaging].

Annales de pathologie
2025

Inhibition of NAMPT as a therapeutic strategy to suppress tumor growth in lymphangioleiomyomatosis.

Biochimica et biophysica acta. Molecular cell research
2025

[Pulmonary cystic lesions in a young female patient].

Praxis
2025

PEComa-its clinical features, histopathology, and current therapy.

Japanese journal of clinical oncology
2025

Mechanisms of exercise limitation and pulmonary rehabilitation in patients with cystic lung diseases.

Expert review of respiratory medicine
2025

Real-Time Identification of Lymph Vessels Using Indocyanine Green in a Patient With Chylothorax Associated With Lymphangioleiomyomatosis.

Asian journal of endoscopic surgery
2025

[Lymphangioleiomyomatosis: Update on Pathophysiology, Diagnosis, and Treatment].

Revista medica de Chile
2025

A Gain-of-Function Mutation in Mechanistic Target of Rapamycin Results in a Tuberous Sclerosis Complex-Like Manifestation of Parenchymal Lung Disease.

Chest
2024

Late living-donor kidney transplantation from the same donor after living-donor lobar lung transplantation.

JHLT open
2025

A challenging convergence of conditions in a patient with thalassemia major presenting with thymoma and lymphangioleiomyomatosis: a case report.

Journal of medical case reports
2025

Lung Transplantation Outcomes and Peritransplant Sirolimus Use in Lymphangioleiomyomatosis.

Annals of thoracic surgery short reports
2025

Pediatric reference values of VEGF-D derived from a German population-based cohort of healthy children.

Clinica chimica acta; international journal of clinical chemistry
2025

Genetic Mutations and Post-Lung Transplant Complications: A Case of Hereditary Transthyretin Amyloidosis.

Transplantation proceedings
2025

Beyond the Graft: Recurrence of Interstitial Lung Diseases Post Transplant.

Journal of clinical medicine
2025

Illness cognition, illness perception and related factors in patients with lymphangioleiomyomatosis.

Orphanet journal of rare diseases
2025

Brazilian Thoracic Association recommendations for the management of lymphangioleiomyomatosis.

Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia
2025

Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China.

Orphanet journal of rare diseases
2025

[Incidental diagnosis of lymphangioleiomyomatosis in gynecological surgery-a case series].

Pathologie (Heidelberg, Germany)
2025

Targeting fibroblast-endothelial cell interactions in LAM pathogenesis using 3D spheroid models and spatial transcriptomics.

JCI insight
2025

Synergistic effects of mTOR inhibitors with VEGFR3 inhibitors on the interaction between TSC2-mutated cells and lymphatic endothelial cells.

Science China. Life sciences
2025

Lymphangioleiomyomatosis and Pregnancy-Do We Have All the Answers for a Woman Who Desires to Conceive?-Literature Review.

Cancers
2024

Characteristics and outcomes of patients with LAM receiving sirolimus in France based on real-life data.

Frontiers in medicine
2024

Thirty years of lung transplantation: development of postoperative outcome and survival over three decades.

Journal of thoracic disease
2024

Immature Smooth Muscle Infiltration in Sporadic Lymphangioleiomyomatosis: A Case Study.

South Dakota medicine : the journal of the South Dakota State Medical Association
2025

A Novel Case of Pulmonary Sclerosing Diffuse PEComatosis With Neuroendocrine Cell Hyperplasia.

The American journal of surgical pathology
2024

Abdominal lymphangioleiomyomatosis in a man presenting with gastrointestinal hemorrhage as the first manifestation: a case report.

Frontiers in medicine
2025

Lymphangioleiomyomatosis of the Pelvic Lymph Nodes Detected Incidentally During Surgical Staging of Gynecological Malignancies: Comprehensive Clinicopathological Analysis of 17 Consecutive Cases from a Single Institution.

In vivo (Athens, Greece)
2024

Tuberous sclerosis: a survey in the canton of Vaud, Switzerland.

Frontiers in medicine
2024

STAT1 Promotes PD-L1 Activation and Tumor Growth in Lymphangioleiomyomatosis.

bioRxiv : the preprint server for biology
2024

Adrenal PEComa Treated by Surgical Resection and Postoperative Radiotherapy: A Case Report.

The American journal of case reports
2024

Pericardial Effusion as a Presentation of Lymphangioleiomyomatosis.

Cureus
2025

Tuberous Sclerosis Complex Demonstrated on 18 F-FDG PET/CT.

Clinical nuclear medicine
2024

Primary thymic mucosa-associated lymphoid tissue (MALT) lymphoma with Sjogren's syndrome and diffuse cystic lung disease: a complex respiratory presentation of a multifaceted autoimmune disease.

BMJ case reports
2024

Unlocking the clinical potential of paired inspiratory and expiratory CT scans in the differential diagnosis of cystic lung diseases: A systematic review.

PloS one
2024

The development for emerging biomarkers of lymphangioleiomyomatosis.

Orphanet journal of rare diseases
2025

Evolution of Diffusing Capacity of the Lungs for Carbon Monoxide in Lymphangioleiomyomatosis: Historical Perspectives and the Role of Advanced Imaging.

Chest
2025

The Bi-steric Inhibitor RMC-5552 Reduces mTORC1 Signaling and Growth in Lymphangioleiomyomatosis.

American journal of respiratory cell and molecular biology
2025

Lymphangioleiomyomatosis: A Review.

Archives of pathology &amp; laboratory medicine
2025

Enhanced Gαq Signaling in TSC2-Deficient Cells Is Required for Their Neoplastic Behavior.

American journal of respiratory cell and molecular biology
2024

The challenge of therapeutic options for patients with lymphangioleiomyomatosis.

The Lancet. Respiratory medicine
2024

Nintedanib for patients with lymphangioleiomyomatosis: a phase 2, open-label, single-arm study.

The Lancet. Respiratory medicine
2024

Hereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors.

Oncology (Williston Park, N.Y.)
2024

Repurposing Nitazoxanide for Potential Treatment of Rare Disease Lymphangioleiomyomatosis.

Biomolecules
2024

Tuberous sclerosis-associated pulmonary lymphangioleiomyomatosis: The role of pulmonary rehabilitation - A case report.

Respiratory medicine case reports
2024

PEComas: A review of imaging and clinical features.

Clinical imaging
2025

Quantifying Spatial Distribution of Ventilation Defects in Multiple Pulmonary Diseases With Hyperpolarized 129Xenon MRI.

Journal of magnetic resonance imaging : JMRI
2024

Successful Treatment of Postmenopausal Exacerbation of Abdominal Lymphangioleiomyomatosis With Sirolimus: A Report of a Rare Case.

Cureus
2024

Pulmonary Lymphatics History, Anatomy, and Pathophysiology: Emerging Knowledge and a Look to the Future.

Lymphology
2024

Clinical and Functional Outcomes Associated with Quality of Life in Patients with Lymphangioleiomyomatosis: A Cross-Sectional Study.

Lung
2024

Surgical Management of Solitary Extrapulmonary Lymphangioleiomyomatosis in the Mesentery: A Case Report.

Cureus
2024

A case report and review of rheumatoid arthritis co-occurring with tuberous sclerosis complex, a rare occurrence.

Frontiers in immunology
2025

Lymphangioleiomyomatosis and its Treatment: When to Start?

Archivos de bronconeumologia
2024

Uterine lymphangioleiomyomatosis in a premenopausal woman with tuberous sclerosis: A case report.

Case reports in women's health
2024

Extracellular vesicles regulate metastable phenotypes of lymphangioleiomyomatosis cells via shuttling ATP synthesis to pseudopodia and activation of integrin adhesion complexes.

bioRxiv : the preprint server for biology
2024

Diagnostic Accuracy of Computed Tomography in Lymphangioleiomyomatosis.

Acta medica portuguesa
2024

Management of a rare case of lymphangioleiomyomatosis complicated by recurrent pneumothorax.

BMJ case reports
2024

Omics research in lymphangioleiomyomatosis: status and challenges.

Expert review of respiratory medicine
2025

A Comparison of Clinical and Radiological Presentations of Sporadic and Tuberous Sclerosis Complex-Associated Lymphangioleiomyomatosis.

American journal of medical genetics. Part A
2025

Surgical management of pleural complications in lymphangioleiomyomatosis.

The Journal of thoracic and cardiovascular surgery
2025

Diffuse Cystic Lung Disease: A Clinical Guide to Recognition and Management.

Chest
2024

Hemoptysis Associated with Sexual Activity in Lymphangioleiomyomatosis.

Annals of the American Thoracic Society
2024

Spontaneous Hydropneumothorax After Pleurodesis in a Patient With Pulmonary Lymphangioleiomyomatosis With Associated Endometrial Cancer.

Cureus
2024

Diagnostic value of serum vascular endothelial growth factor-D in Korean patients with lymphangioleiomyomatosis.

Therapeutic advances in respiratory disease
2024

Long-term safety and influence on growth in patients receiving sirolimus: a pooled analysis.

Orphanet journal of rare diseases
2024

Multisystem Lymphangioleiomyomatosis.

Radiology
2024

[Clinical features of pulmonary hypertension in lymphangioleiomyomatosis].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2024

Clinical Trial Validation of Automated Segmentation and Scoring of Pulmonary Cysts in Thoracic CT Scans.

Diagnostics (Basel, Switzerland)
2024

Unsupervised Exercise in Interstitial Lung Disease: A Delphi Study to Develop a Consensus Preparticipation Screening Tool for Lymphangioleiomyomatosis.

Chest
2024

Plasmacytoid Dendritic Cells: Bring a Glimmer of Hope for Patients with Lymphangioleiomyomatosis.

American journal of respiratory cell and molecular biology
2024

Plasmacytoid Dendritic Cells Mediate CpG-ODN-induced Increase in Survival in a Mouse Model of Lymphangioleiomyomatosis.

American journal of respiratory cell and molecular biology
2024

Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex.

Journal of medical genetics
2024

Improved Diffusion-Weighted Hyperpolarized 129Xe Lung MRI with Patch-Based Higher-Order, Singular Value Decomposition Denoising.

Academic radiology
2024

Safety and efficacy of COVID-19 vaccination in the Chinese population with pulmonary lymphangioleiomyomatosis: a single-center retrospective study.

Orphanet journal of rare diseases
2024

Genetic background of pulmonary (vascular) diseases - how much is written in the codes?

Current opinion in pulmonary medicine
2024

A 20-year-old woman with chronic cough and dyspnea.

Proceedings (Baylor University. Medical Center)
2024

Novel developments in the study of estrogen in the pathogenesis and therapeutic intervention of lymphangioleiomyomatosis.

Orphanet journal of rare diseases
2024

Lung cancer and lymphangioleiomyomatosis: A common complication in an uncommon condition.

Respirology (Carlton, Vic.)
2024

Single Lung Transplantation After Open Window Thoracotomy for Empyema: A Case Report.

Transplantation proceedings
2024

Stepwise Incremental Dose Schedule of Sirolimus Is Successfully Tolerated by a Patient With Lymphangioleiomyomatosis Who Was Initially Allergic to mTOR Inhibitors.

Cureus
2024

Hepatic perivascular epithelioid cell tumors: Benign, malignant, and uncertain malignant potential.

World journal of gastroenterology
2024

A Study on the Psychological Profile and Coping With the Disease in Patients With Lymphangioleiomyomatosis.

Open respiratory archives
2024

Effect of mTOR inhibitors on the mortality and safety of patients with lymphangioleiomyomatosis on the lung transplantation waitlist: A retrospective cohort study.

Respiratory investigation
2023

Giant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
2024

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female.

Case reports in neurological medicine
2024

Native lung surgery after single lung transplantation: clinical characteristics and outcomes.

Surgery today
2024

[Diffuse cystic lung disease].

Therapeutische Umschau. Revue therapeutique
2024

Lymphangioleiomyomatosis as a potent lung cancer risk factor: Insights from a Japanese large cohort study.

Respirology (Carlton, Vic.)
2024

A Case Report of Malignant Perivascular Epithelioid Cell Tumors of the Uterus and Literature Review.

International journal of women's health
2024

Glycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for lymphangioleiomyomatosis.

Endocrine-related cancer
2024

Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelic TSC2 inactivation.

Frontiers in oncology
2024

Lymphangioleiomyomatosis: Rapidly Progressive Retroperitoneal Cystic Tumor Mimicking Malignancy.

Internal medicine (Tokyo, Japan)
2024

A 24-year-Old woman with recurrent pneumothoraces.

Respiratory medicine case reports
2024

Tuberous sclerosis complex associated lymphangioleiomyomatosis caused by de novo mutation of TSC2 gene in Vietnam: A case report.

Respirology case reports
2024

Lymphangioleiomyomatosis and pregnancy: a mini-review.

Archives of gynecology and obstetrics
2024

Epidemiology of patients with lymphangioleiomyomatosis: A descriptive study using the national database of health insurance claims and specific health checkups of Japan.

Respiratory investigation
2024

An Uncommon Presentation of Renal Angiomyolipoma: A Case Report.

Cureus
2024

An elderly woman with Birt-Hogg-Dubé syndrome having multiple pulmonary cysts mimicking lymphangioleiomyomatosis.

Respiratory investigation
2024

[Lymphangioleiomyomatosis].

La Revue du praticien
2024

Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents, and Young Adults: Clinicopathologic Features in 70 Cases.

Archives of pathology &amp; laboratory medicine
2024

Desquamative interstitial pneumonia: A case report.

Experimental and therapeutic medicine
2024

Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.

Orphanet journal of rare diseases
2024

Intraoperative mechanical ventilation and incidence of pneumothorax in lymphangioleiomyomatosis.

Orphanet journal of rare diseases
2024

Increasing the scan-efficiency of pulmonary imaging at 0.55 T using iterative concomitant field and motion-corrected reconstruction.

Magnetic resonance in medicine
2024

Bayesian two-stage modeling of longitudinal and time-to-event data with an integrated fractional Brownian motion covariance structure.

Biometrics
2024

Clinical, tomographic and functional comparison of sporadic and tuberous sclerosis complex-associated forms of lymphangioleiomyomatosis: a retrospective cohort study.

ERJ open research
2024

Case report: If it is not asthma-think of lymphangioleiomyomatosis in younger female patients.

Frontiers in medicine
2024

An unusual case of metastatic trophoblastic neoplasm presenting with diffuse cystic lung disease and pulmonary artery pseudoaneurysms in a teenager.

Pediatric pulmonology
2024

Ultra-low dose chest CT with silver filter and deep learning reconstruction significantly reduces radiation dose and retains quantitative information in the investigation and monitoring of lymphangioleiomyomatosis (LAM).

European radiology
2024

A chylothorax in a young woman: The difficulties of medical management.

Respirology case reports
2024

Complications of lymphangioleiomyomatosis in pregnancy: a case report and review of the literature.

AJOG global reports
2024

Identification of Lymphangioleiomyomatosis-associated Serum MicroRNAs.

American journal of respiratory cell and molecular biology
2024

Soft Tissue Perivascular Epithelioid Cell Tumors.

Surgical pathology clinics
2024

The role of moesin in diagnosing and assessing severity of lymphangioleiomyomatosis.

Respiratory research
2024

Case of the Month from the Peter MacCallum Cancer Centre, Melbourne, Australia: an operative approach to large renal angiomyolipoma associated with lymphangioleiomyomatosis.

BJU international
2024

TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex.

Nature communications
2024

Small airways morphological alterations associated with functional impairment in lymphangioleiomyomatosis.

BMC pulmonary medicine
2024

Lymphangioleiomyomatosis: No Longer Ultra-rare.

American journal of respiratory and critical care medicine
2023

A case report of lymphangioleiomyomatosis with retroperitoneal masses in pregnancy.

Frontiers in medicine
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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Tuberous sclerosis complex.
    Nature reviews. Disease primers· 2026· PMID 41820375mais citado
  2. Choriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.
    BMJ case reports· 2026· PMID 41741123mais citado
  3. Dual renal pathologies in tuberous sclerosis complex: bilateral renal angiomyolipomas and concurrent left renal cell carcinoma.
    BMJ case reports· 2026· PMID 41605552mais citado
  4. Human blood cell traits and sporadic lymphangioleiomyomatosis: results from mediation joint multi-omics and eQTL Mendelian randomization analysis.
    Orphanet journal of rare diseases· 2026· PMID 41593677mais citado
  5. CCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis.
    Orphanet journal of rare diseases· 2026· PMID 41559739mais citado
  6. PEComas: Current Concepts in Diagnosis, Molecular Pathways, and Emerging Treatments.
    Oncologist· 2026· PMID 41964900recente
  7. Bilateral Lung Transplantation for Lymphangioleiomyomatosis With Secondary Pulmonary Hemosiderosis: A Case Report.
    Case Rep Pathol· 2026· PMID 41953042recente
  8. Interaction of estrogen and interleukin 6 in the progression of lymphangioleiomyomatosis.
    Biochim Biophys Acta Mol Cell Res· 2026· PMID 41933736recente
  9. Diffuse Alveolar Hemorrhage in Lymphangioleiomyomatosis.
    Chest· 2026· PMID 41933611recente
  10. Access to lymphangioleiomyomatosis care across Europe: an ERN-LUNG survey of clinical practice, and the case for a European registry and trial network.
    ERJ Open Res· 2026· PMID 41918953recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:538(Orphanet)
  2. MONDO:0006277(MONDO)
  3. GARD:3319(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1878759(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Linfangioleiomiomatose
Compêndio · Raras BR

Linfangioleiomiomatose

ORPHA:538 · MONDO:0006277
Prevalência
1-9 / 1 000 000
Herança
Not applicable
CID-10
D48.7 · Neoplasia de comportamento incerto ou desconhecido de outras localizações especificadas
CID-11
Ensaios
13 ativos
Início
Adult
Prevalência
0.15 (Worldwide)
MedGen
UMLS
C0238399
Repurposing
1 candidato
sirolimusmTOR inhibitor
EuropePMC
Wikidata
Wikipedia
Papers 10a
Evidência
🥇 Meta-análise
DiscussaoAtiva

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